COSMIC:
COSM3762564
COSM3762565
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.7326356 (AFR)
Genomes Max Group AF
0.72807392 (AFR)
Exomes Max Group AF
0.73353778 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.20728390G>A , CM000669.2:g.20728390G>A | GRCh38 |
| NC_000007.13:g.20768013G>A , CM000669.1:g.20768013G>A | GRCh37 |
| NC_000007.12:g.20734538G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404938.7:c.2802G>A MANE Select | ENSP00000384881.2:p.Ala934= | |
| ENST00000258738.10:c.1467G>A | ENSP00000258738.6:p.Ala489= | |
| ENST00000404938.6:c.2802G>A | ENSP00000384881.2:p.Ala934= | |
| ENST00000441315.1:c.303G>A | ENSP00000398692.1:p.Ala101= | |
| NM_001163941.1:c.2802G>A | NP_001157413.1:p.Ala934= | |
| NM_178559.5:c.1467G>A | NP_848654.3:p.Ala489= | |
| XM_011515367.1:c.1467G>A | XP_011513669.1:p.Ala489= | |
| XM_011515368.1:c.1467G>A | XP_011513670.1:p.Ala489= | |
| XM_011515367.2:c.1467G>A | XP_011513669.1:p.Ala489= | |
| NM_001163941.2:c.2802G>A MANE Select | NP_001157413.1:p.Ala934= | |
| NM_178559.6:c.1467G>A | NP_848654.3:p.Ala489= |